VPS53

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• pontocerebellar hypoplasia type 2E

  0.73

• progressive cerebello-cerebral atrophy

  0.66

• neurodegenerative disease

  0.53

• prostate carcinoma

  0.53

• prostate cancer

  0.47

• pontocerebellar hypoplasia

  0.40

• Global developmental delay

  0.37

• Intellectual disability

  0.37

• type 2 diabetes mellitus

  0.34

• Non-syndromic pontocerebellar hypoplasia

  0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)